UMPS, uridine monophosphate synthetase, 7372

N. diseases: 102; N. variants: 8
Disease: Hereditary orotic aciduria, type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917892
rs121917892
Entrez Id: 7372
Gene Symbol: UMPS
UMPS
CUI: C0268130
Disease:
Hereditary orotic aciduria, type 1 		0.700 GeneticVariation UNIPROT Molecular investigation of UMP synthase deficiency in a Japanese orotic aciduria patient revealed mutations R96G (A-to-G transition; nt 286) and G429R (G-to-C transversion; nt 1285) in one allele and V109G (T-to-G transversion; nt 326) in the other allele. 9042911 1997